Heterozygous splice mutation inPIK3R1causes human immunodeficiency with lymphoproliferation due to dominant activation of PI3K
出版年份 2014 全文链接
标题
Heterozygous splice mutation inPIK3R1causes human immunodeficiency with lymphoproliferation due to dominant activation of PI3K
作者
关键词
-
出版物
JOURNAL OF EXPERIMENTAL MEDICINE
Volume 211, Issue 13, Pages 2537-2547
出版商
Rockefeller University Press
发表日期
2014-12-09
DOI
10.1084/jem.20141759
参考文献
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注意:仅列出部分参考文献,下载原文获取全部文献信息。- Clinical delineation and natural history of thePIK3CA-related overgrowth spectrum
- (2014) Kim M. Keppler-Noreuil et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Idelalisib, an inhibitor of phosphatidylinositol 3-kinase p110 , for relapsed/refractory chronic lymphocytic leukemia
- (2014) J. R. Brown et al. BLOOD
- Idelalisib, a selective inhibitor of phosphatidylinositol 3-kinase- , as therapy for previously treated indolent non-Hodgkin lymphoma
- (2014) I. W. Flinn et al. BLOOD
- A phase 1 study of the PI3K inhibitor idelalisib in patients with relapsed/refractory mantle cell lymphoma (MCL)
- (2014) B. S. Kahl et al. BLOOD
- Exome sequencing identifies a novel mutation in PIK3R1 as the cause of SHORT syndrome
- (2014) Clea Bárcena et al. BMC Medical Genetics
- Occurrence of B-cell lymphomas in patients with activated phosphoinositide 3-kinase δ syndrome
- (2014) Sven Kracker et al. JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
- Mutations in PIK3CD Can Cause Hyper IgM Syndrome (HIGM) Associated with Increased Cancer Susceptibility
- (2014) M. C. Crank et al. JOURNAL OF CLINICAL IMMUNOLOGY
- A human immunodeficiency caused by mutations in the PIK3R1 gene
- (2014) Marie-Céline Deau et al. JOURNAL OF CLINICAL INVESTIGATION
- Idelalisib: targeting PI3Kδ in B-cell malignancies
- (2014) Judith A Gilbert LANCET ONCOLOGY
- PIK3R1 Mutations Cause Syndromic Insulin Resistance with Lipoatrophy
- (2013) Christel Thauvin-Robinet et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Mutations in PIK3R1 Cause SHORT Syndrome
- (2013) David A. Dyment et al. AMERICAN JOURNAL OF HUMAN GENETICS
- SHORT Syndrome with Partial Lipodystrophy Due to Impaired Phosphatidylinositol 3 Kinase Signaling
- (2013) Kishan Kumar Chudasama et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Dominant-activating germline mutations in the gene encoding the PI(3)K catalytic subunit p110δ result in T cell senescence and human immunodeficiency
- (2013) Carrie L Lucas et al. NATURE IMMUNOLOGY
- Phosphoinositide 3-Kinase Gene Mutation Predisposes to Respiratory Infection and Airway Damage
- (2013) I. Angulo et al. SCIENCE
- Agammaglobulinemia and absent B lineage cells in a patient lacking the p85α subunit of PI3K
- (2012) Mary Ellen Conley et al. JOURNAL OF EXPERIMENTAL MEDICINE
- Mosaic overgrowth with fibroadipose hyperplasia is caused by somatic activating mutations in PIK3CA
- (2012) Marjorie J Lindhurst et al. NATURE GENETICS
- De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes
- (2012) Jean-Baptiste Rivière et al. NATURE GENETICS
- De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly
- (2012) Jeong Ho Lee et al. NATURE GENETICS
- PIK3R1 (p85 ) Is Somatically Mutated at High Frequency in Primary Endometrial Cancer
- (2011) M. E. Urick et al. CANCER RESEARCH
- Dynamics of the Phosphoinositide 3-Kinase p110δ Interaction with p85α and Membranes Reveals Aspects of Regulation Distinct from p110α
- (2011) John E. Burke et al. STRUCTURE
- CAL-101, a p110 selective phosphatidylinositol-3-kinase inhibitor for the treatment of B-cell malignancies, inhibits PI3K signaling and cellular viability
- (2010) B. J. Lannutti et al. BLOOD
- Cancer-derived mutations in the regulatory subunit p85 of phosphoinositide 3-kinase function through the catalytic subunit p110
- (2010) M. Sun et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Somatic Mutations in p85α Promote Tumorigenesis through Class IA PI3K Activation
- (2009) Bijay S. Jaiswal et al. CANCER CELL
- Targeting the PI3K signaling pathway in cancer
- (2009) Kwok-Kin Wong et al. CURRENT OPINION IN GENETICS & DEVELOPMENT
- Comprehensive genomic characterization defines human glioblastoma genes and core pathways
- (2008) Roger McLendon et al. NATURE
- An Integrated Genomic Analysis of Human Glioblastoma Multiforme
- (2008) D. W. Parsons et al. SCIENCE
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